Tourette syndrome

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Tourette syndrome

• By Jimmy Huynh
• Sean Chaffin

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Instruction page

• Hello Viewer
• This PowerPoint is designed by Sean Chaffin
  and Jimmy Huynh to inform you all about Tourette
  Syndrome. Use the Table of Contents as your main
  page. To get back to it, just click on the
  magical chromosome . The magical
  chromosome is located in the bottom left corner.
  It will appear on the bottom left of each slide
  unless the slide is a branch off of another one.
  There are also more buttons that are underlined
  in the right bottom corner that may lead to more
  information or pictures. There may also be some
  words that will be underlined in the text that
  you may not know. If you click on them they will
  send to you the glossary with the definition.
  With that said, we think it is time to start the
  show. We hope you enjoy this and learn something
  that may prove useful one day.
  -Cheers o

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Table Of Contents

• Current Research
• Chromosome
• More Pictures
• Our Response
• Interest Card
• Interest Card Part. 2
• Interest Card Part. 3
• Interest Card Part. 4
• Another Case
• Another Case Continued..
• More Pictures
• Additional Information
• Additional Information Continued..
• Glossary
• Glossary 2
• Bibliography
• Credit Card

• Introduction
• History
• More Pictures
• Mode of Inheritance
• Pedigree
• Punnett Square
• Other Causes
• Clinical Description
• What is the Basal Ganglia?
• More Pictures
• Controlling Tics
• Treatment
• More Pictures
• Detection
• Related Conditions
• Educational issues
• Prognosis
• Statistical Data

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Introduction
Tourette Syndrome is an inherited neurological
disorder, discovered by a French doctor named,
Georges-Albert-Edouard-Brutus-Gilles-de
la-Tourette, that affects about 100,000-200,000
people just in the U.S. It is an autosomal
dominant disorder that causes involuntary actions
called tics. These tics are involuntary
physical actions such as, waving of arms, vocal
actions such as, blurting out obscenities and
profanity. It causes tics by altering the way the
part of the brain that controls all your actions.
Gerorges-Albert-Edouard-Brutus-Gilles-de la
-Tourette
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History

• In 1825, Jean Marc Itard described the
  first case of Tourette Syndrome (TS) in medical
  literature. It was first described in the
  Marquise De Dampierre, who was a French
  noblewoman. Itard described the Marquise of
  having motor tics called, echolalia and
  coprolalia. She developed it at age 7 then later
  developed involuntary vocalizations and died at
  age 85. The syndrome had nothing to do with her
  death. About 50 years later, Georges-Albert-Edouar
  d-Brutus-Gilles-de la-Tourette (that is one long
  name..) produced a detailed account of several
  cases of TS. So Tourette is considered the true
  discoverer of TS.

pictures
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More pictures
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Mode of Inheritance

• Tourette Syndrome is an autosomal dominant
  disorder. The chance of inheriting TS is 50/50.
  But males seem to be getting it more than females
  by 75. If both parents have tourette syndrome
  then the chance of getting it is usually 100. It
  is polygenic. In some cases, the inheritance can
  be sporadic. But that is very rare. Most of the
  time it is inherited from parents that have had
  it.

Pedigree
Punnett square
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Pedigree
Gen. 1
Gen. 2
Gen. 3
Tourette Syndrome
Female
Normal
Male
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Punnett Square
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T t
t
Tt
tt
T
TT
Tt
t
Tt
tt
t
Tt
tt
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Other Causes

• Although we already know for a fact that TS is
  inherited, there are still other factors that
  may contribute to the cause. Among these factors
  are
• Streptococcus Infection
• Magnesium Deficiency
• Low Birth Weight
• Maternal Life stress during pregnancy.
• These do not cause TS, but research has shown
  that it influences it.

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Clinical Description

• Inherited autosomal dominant.
• Tics are the most distinctive symptom.
• Affects how the basal ganglia uses its
  transmitter chemicals such as..
• Dopamine
• Serotonin
• Norepinephine
• Tics are involuntary physical and verbal actions.
• If the tics occur for more than one year it is
  diagnosed as chronic tic disorder.

Basal Ganglia?
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What is the basal ganglia?
The basal ganglia part of the brain controls
all your actions whether it be physical or
verbal. It is located in the center of your
brain. It utilizes the transmitter chemicals
dopamine, serotonin, and norepinephine. An
example of an physical tic is a body part
twitching a lot. An example of a verbal tic is
shouting profanity.
More pictures
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More Pictures
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Controlling tics

• People with tics try tocontrol their tics but
  can only do it for a little bit of time. Its
  just like trying to suppress a sneeze.
  Eventually, the tic with escape.
• Tics are worse when the person is under
  stress. They get better when the person is
  relaxed or in an activity. In most cases, tics
  will decrease during sleep. Tics eventually fade
  away as you age, but having the syndrome itself
  will not fade.

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Treatment

• There is no cure for tourette syndrome.
• Most people do not need medication because the
  symptoms are mild meaning they can function in
  society with few tics.
• More than one medication to prevent symptoms
• Here is a list of some drugs used to treat
  Tourette syndrome.
• Haloperidol (Haldol)
• Pimozide (Orap)
• Fluphenazine (Proxlixn)
• Clonidine (Catapres)

More Pictures
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More Pictures
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Detection

• The way that tourette syndrome is detected
  is after birth. It isnt something we can detect
  prenatal. For diagnosis for TS to be made, both
  motor and vocal tics must have been present for
  at least 1 year. There is no other way to test
  for it.

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Related Conditions

• Obsessive-compulsive behaviors
• Attention deficit disorder
• Learning disabilities
• Problems with impulse control
• Sleep disorders.

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Educational Issues

• Students with TS usually dont have many
  problems. But the students with TS that have the
  related conditions such as ADD need to be placed
  in special education classes that meet their
  individual needs. They need a tolerant and
  encouraging environment to learn in.

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Prognosis

• Even if Tourette Syndrome is a chronic
  disorder (symptoms lasting for a lifetime), most
  people have their worst symptoms in their early
  teenage years. As they grow into adults, the
  symptoms fade away more and more. In some cases,
  people have improved and have no symptoms of TS
  whatsoever.

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Statistical data

• There is a 50 chance of inheriting TS when you
  have one parent with it. 100 if both parents
  have it
• Boys seem to be obtaining TS 75 more than girls.
• There are 100,000-200,000 people that are
  suffering from TS in the US.
• Most people are diagnosed with TS at early ages
  like 7.

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Current Research

• The research that is being conducted as of
  right now is being done by the National Institute
  of Neurological Disorders and Stroke (NINDS).
  They have led to notable findings. Scientists
  have found out it is inherited dominantly. Right
  now they are trying to find out its location in
  the genes. They are also conducting experiments
  to study the brain activity during these TS
  incidents.

Chromosome
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Chromosome

• Located on Chromosome 18q22.1?
• There is a ? next the the18q22.1 because it is
  unknown.
• They are not sure if its there, but most likely
  it is.

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More Pictures
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Our Response

• We think that people with tourette
  syndrome would just want to be treated as
  everyone else and not be segregated. They are
  normal. They just have tics. The tics they have
  might prevent them from making friends that are
  considered to be normal in society. So people
  need to be more tolerant and accepting.

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Interest Card
A true story

• "Pools of Water"
• written by a Proud Mother
• This story reflects the heartache and love than
  can come from parenting a Tourette child. The
  story of Keith, a young ballplayers with big blue
  eyes that must concentrate harder than ever
  before to "keep them open" when throwing a pitch,
  this wonderful mother shares with us what it felt
  like to learn her child had Tourette's from
  watching a network talk show and how she and her
  husband have learned that although they cannot
  "fix" their son, there is also nothing for them
  or him to be ashamed of either.
• How wonderful for all the information on
  Tourette Syndrome. A few years ago my middle boy
  was diagnosed with Tourette's. Around the age of
  eight my son began blinking his eyes. Those big
  sky blue eyes soon became squinted almost all the
  time. I missed seeing the color that look like
  pools of water.

Next ?
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Interest card part.2

• Soon, other parents began to ask me if
  Keith had allergies. At first the doctor believed
  that Keith had developed nervous tics. Child hood
  tics that would disappear in a short while.
  Instead Keith started grunting , sniffing and,
  scrunching up his face. This time I took him to
  the doctor to have allergy tests done. The test
  came back ..... no allergies. My husband and I
  were instructed to ignore the tics. The more we
  brought it to Keith's attention the more he would
  tic. This was the doctors thoughts. As these
  symptoms became more noticeable my husband
  developed other thoughts. He believed that we
  could demand Keith to stop. He believed that this
  was just a bad habit that we allowed Keith to
  develop. This made for trying moments of the
  wills. I tried to keep my husband from nagging
  our boy and my husband along with his father
  believed that it needed to be stopped.

Next ?
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Interest card part. 3

• One day on a "network talk show"they
  had children with severe symptoms of Tourette. My
  heart went out to these children. Then they
  talked to a boy who had more mild symptoms. My
  mouth fell open and my heart broke. This boy was
  grunting and blinking and scrunching up his face
  exactly like my son does. I went right to the
  phone and called our doctored. I told him about
  the show and my thoughts that Keith's tics may be
  Tourette. His words pierced my heart ,two simple
  words,"I agree. I'm going to get him an
  appointment with a specialist."
• It was a long wait until that
  appointment. I knew nothing about Tourette's
  other then what I had seen on television. I
  thought about the more severe tics and worried.
  Do these tics continually get worse and worse
  until they can no longer play sports. As I looked
  out at him on the pitcher mound blinking and
  throwing the ball. Then later grunting and
  hitting yet another home run I had to stop and
  face what was in my heart. Maybe next year he
  won't be out there. How could I ever tell him
  that.

Next ?
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Interest card part. 4

• This all came from no education on the
  subject and from talk shows putting the most
  dramatic stories out to the public with very
  little explanation. He was diagnosed with
  Tourette's and it hasn't slowed him down one bit.
  He is still pitching for his team and hitting
  home runs and grand slams. While pitching his
  tics increase but he has taught himself a little
  pattern so his eyes stay open while he throws.
  His team was undefeated for the past two years
  and won all championships. His soccer team was
  also undefeated and won their championship. He
  also plays great in basketball with only one loss
  for the season. With this and trick biking,
  rollerblading and snow boarding he has shown to
  me over and over that Tourette hasn't slowed him
  down in any way. He still loves and enjoys
  everything he always had.
• It took his father a little bit to get
  use to the idea that he could not fix his son nor
  did we want him to. We look at Tourette as just a
  part of Keith ...like his blue eyes. Nothing to
  be ashamed of and never to be used as an excuse.

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Another Case

• Stacy, a 36-year-old mother of four
  youngsters, thought she was losing her mind. At
  age 2, one of her daughters started making
  clicking sounds with her mouth. She repeated what
  her mother said. Every few steps, she jumped.
  Then there was the impulsiveness.
• "She would touch or do something
  without looking at me for approval," Stacy
  says."I thought maybe I was crazy," Stacy says.
  "I went through eight doctors. They told me,
  'She'll grow out of it.' I knew she wasn't in
  control, and I told them that. But nobody would
  listen to me.
• Finally, specialists told her the
  child had Tourette syndrome (TS), a condition of
  the nervous system. The child's repetitive
  behaviors were identified as tics, involuntary
  movements and vocalizations. Tourette syndrome
  also may be accompanied by attention deficit
  hyperactivity disorder (ADHD) or
  obsessive-compulsive disorder, as was the case
  with Stacy's daughter.

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Another Case Cont..

• That just goes to show how hard and
  unknown this syndrome is right now. She had to go
  through 8 doctors until she finally got someone
  who knew what he/she was doing. This was just
  part of the story. It was kept concise so that
  you may get the point that it is still a somewhat
  unknown syndrome.

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More Picures
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Additional Information

• There are many types of different tics
• Simple motor tic
• Clonic tic cause brief jerking movements like
  blinking, rolling eyes, squinting, nose
  twitching, smacking or licking lips, tongue
  thrusting, sucking thumb, grinding teeth,
  grimacing, tossing hair, foot tapping or shaking,
  and leg jerking.
• Tonic Tics are muscles held in a tense positions
  (usually abdominal, arm or leg muscles).
• Dystonic Tics refer to people holding unusual
  body positions. Examples of dystonic tics are
  keeping the mouth open, eyes closed, or chin
  resting on their shoulder or chest.

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Additional Information Cont..

• Complex Motor Tics include a wide variety of
  actions including burping, pinching, jumping,
  hopping, smelling things, drumming fingers,
  twirling in circles, walking on toes, kissing
  (self or others), adjusting clothes, pulling
  dress up, inappropriately touching self or others
  (holding groin, picking at buttocks, putting head
  on someones breast), throwing things, hitting,
  kicking, or making rude or obscene gestures
  (giving the finger).
• Simple Phonic Tics are sounds or actions such as
  sniffing, spitting, coughing, and clearing ones
  throat. Simple phonic tics also include honking,
  screaming, squeaking and making animal sounds
  (barking, mooing, and crowing).
• Complex Phonic Tics usually involve the use of
  language. Some people with complex phonic tics
  stutter, or repeat the last word, phrase, or
  syllable in a sentence. Others echo someone
  elses words. Some carry on conversations aloud
  changing intonation to indicate different
  characters are talking.

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Glossary

• Autosomal dominant- The type of inheritance in
  which the sex chromosomes have nothing to do with
  it and it is a dominant trait.
• Tourette Syndrome- A severe neurological disorder
  characterized by multiple facial and other body
  and verbal tics usually beginning in childhood.
• Georges-Albert-Edouard-Brutus-Gilles-de
  la-Tourette One of the longest names Ive heard
  of. The founder of tourette syndrome and is named
  after him.
• Polygenic- Having to do with many genes.
• Dominant- The trait that is expressed.
• Recessive- The trait that is in the genotype, but
  isnt expressed.
• Carrier- An organism that has a recessive trait
  that may be passed down to be dominant.

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Glossary part 2

• Heterozygous- Where there is one dominant and one
  recessive trait in one genotype.
• Homozygous- Where there are two dominant traits
  in one genotype.
• Syndrome- A condition having to do with certain
  disorders.
• Allele- One member of a pair or series of genes
  that occupy a specific position on a specific
  chromosome.
• Sporadic- When neither of the parents had the
  disorder.
• Tics- Involuntary physical or verbal actions.

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Bibliography

• http//www.tourette-syndrome.com/tourette-syndrome
  -life-stories.htm
• kidshealth.org/parent/medical/brain/tourette.html
  
• www.ninds.nih.gov/disorders/tourette/tourette.htm
  
• www.tourette-syndrome.com/tourette-syndrome-facts.
  htm
• http//faculty.washington.edu/chudler/ts.html
• http//psychology.about.com/library/weekly/aa11010
  2i.htm
• http//www.ninds.nih.gov/disorders/tourette/detail
  _tourette.htm
• http//www.hopepress.com/html/faq_s.html
• http//www.childdevelopmentinfo.com/disorders/tour
  ette_syndrome.shtml

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Credit goes to
This PowerPoint presentation was made by me, Sean
Chaffin, and that guy over there, Jimmy Huynh